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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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KAZALD1
Kazal type serine peptidase inhibitor domain 1
Chromosome 10 · 10q24.31
NCBI Gene: 81621Ensembl: ENSG00000107821.16HGNC: HGNC:25460UniProt: Q96I82
23PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingreceptor ligand activityregulation of signal transductioninterstitial matrixneurodegenerative diseaserefractive errorAbnormality of refractionmetabolic syndrome
✦AI Summary

KAZALD1 (Kazal type serine peptidase inhibitor domain 1) functions as a regulatory protein with diverse roles in tissue homeostasis and disease progression. In cartilage biology, KAZALD1 maintains cartilage homeostasis by attenuating chondrocyte fibrosis through interference with pro-fibrotic TGF-β signaling 1. Mechanistically, KAZALD1 forms a dimer with TGFBR1, blocking the TGF-β1-Akt/Smad3 signaling pathway and suppressing fibrotic gene expression 1. However, KAZALD1 demonstrates contrasting roles in different pathological contexts. In glioma, KAZALD1 acts as an oncogene where promoter hypomethylation leads to overexpression, promoting malignant progression through enhanced cell proliferation and invasion 2. Similarly, KAZALD1 is upregulated in osteosarcoma and serves as a survival-related biomarker associated with poor prognosis 34. Single-cell RNA sequencing studies reveal that KAZALD1 is highly expressed in cancer-associated fibroblasts and osteoblastic osteosarcoma cells 4. In malignant pleural mesothelioma, KAZALD1 undergoes epigenetic silencing through DNA hypermethylation, serving as a potential diagnostic marker 5. The protein also shows promise as a biomarker for diabetic nephropathy 6. These findings highlight KAZALD1's context-dependent functions, acting as either a protective factor in cartilage or promoting malignancy in various cancers.

Sources cited
1
KAZALD1 attenuates chondrocyte fibrosis by interfering with TGF-β signaling and forms dimers with TGFBR1 to block pro-fibrotic pathways
PMID: 41041066
2
KAZALD1 acts as an oncogene in glioma, with hypomethylation leading to overexpression and promoting cell proliferation and invasion
PMID: 24002581
3
KAZALD1 is a survival-related upregulated gene in osteosarcoma associated with poor prognosis
PMID: 33926256
4
KAZALD1 is highly expressed in cancer-associated fibroblasts and osteoblastic osteosarcoma cells based on single-cell RNA sequencing
PMID: 35285281
5
KAZALD1 undergoes DNA hypermethylation in malignant pleural mesothelioma and serves as a potential diagnostic marker
PMID: 19887624
6
KAZALD1 serves as a biomarker for diabetic nephropathy
PMID: 41497483
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.41Moderate
refractive errorOpen Targets
0.38Weak
Abnormality of refractionOpen Targets
0.31Weak
metabolic syndromeOpen Targets
0.07Suggestive
diabetic ketoacidosisOpen Targets
0.04Suggestive
placenta praeviaOpen Targets
0.03Suggestive
gliomaOpen Targets
0.03Suggestive
liver dysplastic noduleOpen Targets
0.01Suggestive
COVID-19Open Targets
0.01Suggestive
colorectal carcinomaOpen Targets
0.01Suggestive
gastric cancerOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.00Suggestive
Peritoneal MesotheliomaOpen Targets
0.00Suggestive
malignant pleural mesotheliomaOpen Targets
0.00Suggestive
microphthalmia with limb anomaliesOpen Targets
0.00Suggestive
glioblastomaOpen Targets
0.00Suggestive
fibrosisOpen Targets
0.00Suggestive
grade III gliomaOpen Targets
0.00Suggestive
malignant peritoneal mesotheliomaOpen Targets
0.00Suggestive
oligoastrocytomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
IGFBPL1Shared pathway100%LRRIQ1Shared pathway50%DBNDD1Shared pathway50%AFAP1Shared pathway50%NCOA5Shared pathway50%PPP6R3Shared pathway50%
Tissue Expression6 tissues
Heart
100%
Bone Marrow
40%
Lung
30%
Brain
15%
Liver
11%
Ovary
4%
Gene Interaction Network
Click a node to explore
KAZALD1IGFBPL1LRRIQ1DBNDD1AFAP1NCOA5PPP6R3
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q96I82
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.60LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.19 [0.90–1.60]
RankingsWhere KAZALD1 stands among ~20K protein-coding genes
  • #13,441of 20,598
    Most Researched23
  • #15,668of 17,882
    Most Constrained (LOEUF)1.60
Genes detectedKAZALD1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Kazald1 attenuates chondrocyte fibrosis to potentiate hyaline cartilage regeneration by interfering with the pro-fibrotic TGF-β signaling.
PMID: 41041066
Theranostics · 2025
1.00
2
Epigenetic silencing of KAZALD1 confers a better prognosis and is associated with malignant transformation/progression in glioma.
PMID: 24002581
Oncol Rep · 2013
0.90
3
Single-cell RNA-seq identification of four differentially expressed survival-related genes by a TARGET: Osteosarcoma database analysis.
PMID: 35285281
Exp Biol Med (Maywood) · 2022
0.80
4
Identification and Verification of Biomarkers Related to Polyamine Metabolism in Diabetic Nephropathy.
PMID: 41497483
J Diabetes Res · 2025
0.70
5
Characterization of DNA hypermethylation in two cases of peritoneal mesothelioma.
PMID: 22836805
Tumour Biol · 2012
0.60